Voltage-dependent P/Q-type calcium channel subunit alpha-1A

UniProt O00555 Organism Homo sapiens Gene CACH4, CACN3, CACNA1A, CACNL1A4

Also known as: CACH4, CACN3, CACNA1A, CACNL1A4

Function

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP).

Classification

Family (Pfam): PF08763 Ca_chan_IQ, PF16905 GPHH, PF00520 Ion_trans
InterPro: CACNA1A, GPHH_dom, Ion_trans_dom, VDCC_a1su_IQ, VDCC_alpha-1_subunit, VDCCAlpha1, Volt_channel_dom_sf
Functional cluster: Membrane Transporters & GPCRs

Experimental structures · PDB · 4

3BXK X-ray 2.55A
8X90 EM 2.95A
8X91 EM 3.11A
8X93 EM 2.92A

A predicted model is available from AlphaFold.

Gene Ontology · 20

Disease associations

episodic ataxia type 2 MONDO:0007163
migraine, familial hemiplegic, 1 MONDO:0020756
spinocerebellar ataxia type 6 MONDO:0008457
developmental and epileptic encephalopathy, 42 MONDO:0014917

Drugs targeting this protein · 10

PREGABALIN modulator
BEPRIDIL HYDROCHLORIDE blocker
GABAPENTIN ENACARBIL modulator
IMAGABALIN modulator
ELPETRIGINE blocker
SULOCTIDIL blocker
PHLOROGLUCINOL blocker
TERODILINE HYDROCHLORIDE blocker
ATAGABALIN modulator
GABAPENTIN modulator

Neighborhood · nearest proteins

Nearest neighbours of Voltage-dependent P/Q-type calcium channel subunit alpha-1A: 3 by sequence/function similarity (left); 3 co-cited in the literature (right).

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Voltage-dependent calcium channel type A subunit alpha-1 1 shared papers
Voltage-dependent R-type calcium channel subunit alpha-1E 1 shared papers
Voltage-dependent L-type calcium channel subunit alpha-1D 1 shared papers
Peripheral-type benzodiazepine receptor-associated protein 1 1 shared papers
Peripheral-type benzodiazepine receptor-associated protein 1 1 shared papers
Voltage-dependent P/Q-type calcium channel subunit alpha-1A 1 shared papers
Calcium-binding protein 1 1 shared papers
Calcium-binding protein 1 1 shared papers
Protein-glutamine gamma-glutamyltransferase 6 1 shared papers
Kinesin-like protein KIF26B 1 shared papers
Transmembrane protein 240 1 shared papers
Guanine nucleotide-binding protein G(o) subunit alpha 1 shared papers

Literature · 43 cited papers

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A. Hum. Genome Var. · 2024
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. Am. J. Hum. Genet. · 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia. J. Clin. Invest. · 2021
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain · 2017
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. Front. Cell. Neurosci. · 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. · 2017
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. Am. J. Hum. Genet. · 2016
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Am. J. Med. Genet. A · 2016
A single amino acid deletion (deltaf1502) in the s6 segment of cav2.1 domain iii associated with congenital ataxia increases channel activity and promotes ca2+ influx. PLoS ONE · 2015
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. J. Neurol. Sci. · 2014
New mutation of CACNA1A gene in episodic ataxia type 2. Pediatr. Int. · 2011
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. J. Neurol. Neurosurg. Psych. · 2010
… and 31 more in the literature graph

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